MGM Exam 2
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| Hurler syndrome | enzyme: alpha-L-iduronidase
accumulation of HS and DS
symptoms: MR, dystosis multiplex, corneal clouding
(LSD I)
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| Hunter syndrome | enzyme: iduronate sulfatase
accumulation of HS and DS
symptoms: mild LSD I without corneal clouding
X-LINKED!!!!
(LSD II)
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| Sanfillipo Syndrome A | enzyme: heparan N-sulfamidase
accumulation of HS
symtoms: severe CNS
(LSD IIIa)
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| Sanfillipo Syndrome B | enzyme: N-acetyl-alpha-D-glucosaminidase
accumulation of HS
symptoms: severe CNS effects
(GSD IIIb)
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| Morquio Syndrome | enzyme: hexosamine-6-sulfatase
accumulation of KS
symptoms: bone changes and cloudy cornea, does not affect intelligence
(LSD IV)
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| Maroteaux-Lamy Syndrome | enzyme: arylsufatase B
accumulation of DS
symptoms: severe bone and soft tissue change with corneal change
(LSD VI)
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| Mucolipidosis (LSD VII) | enzyme: beta-glucouronidase
accumulation of HS and DS
symptoms: hepatosplenomegaly and dysostosis multiplex
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| I-cell disease | inability to phosphorylate mannose, can't get lysosomal enzymes into lysosomes; dysostosis multiplex
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